The next generation of cancer management

por Grody, Wayne W.
Publicado 2016

Emergence of pediatric rare diseases: Review of present policies and opportunities for improvement

por Bavisetty, Supriya, Grody, Wayne W., Yazdani, Shahram
Publicado 2013

Sa1051: UTILIZATION OF A MULTIDISCIPLINARY TELEHEALTH MODEL TO IMPROVE ACCESS TO CARE AND MAINTAIN AN ACADEMIC TEACHING PARADIGM FOR A UNIQUE PATIENT POPULATION DURING THE COVID-19...

por Reddy, Kavya, Grody, Wayne W., Sarkissian, Ariella, Getzug, Terri
Publicado 2022

Synonymous Variants of Uncertain Silence

por Giacoletto, Christopher J., Rotter, Jerome I., Grody, Wayne W., Schiller, Martin R.
Publicado 2023

Large-Scale Whole Genome Sequence Analysis of >22,000 Subjects Provides no Evidence of FMR1 Premutation Allele Involvement in Autism Spectrum Disorder

por Chubick, Alex, Wang, Evan, Au, Cora, Grody, Wayne W., Ophoff, Roel A.
Publicado 2023

American College of Medical Genetics Consensus Statement on Factor V Leiden Mutation Testing

por Grody, Wayne W., Griffin, John H., Taylor, Annette K., Korf, Bruce R., Heit, John A.
Publicado 2001

Arginine Metabolism by Macrophages Promotes Cardiac and Muscle Fibrosis in mdx Muscular Dystrophy

por Wehling-Henricks, Michelle, Jordan, Maria C., Gotoh, Tomomi, Grody, Wayne W., Roos, Kenneth P., Tidball, James G.
Publicado 2010

Confidential genetic testing and electronic health records: A survey of current practices among Huntington disease testing centers

por Eno, Celeste C., Barton, Stacey K., Dorrani, Naghmeh, Cederbaum, Stephen D., Deignan, Joshua L., Grody, Wayne W.
Publicado 2019

Genetic characterization and long-term management of severely affected siblings with intellectual developmental disorder with cardiac arrhythmia syndrome

por Yazdani, Shahram, Badjatiya, Anish, Dorrani, Naghmeh, Lee, Hane, Grody, Wayne W., Nelson, Stanley F., Dipple, Katrina M.
Publicado 2020

Assessing the necessity of confirmatory testing for exome sequencing results in a clinical molecular diagnostic laboratory

por Strom, Samuel P., Lee, Hane, Das, Kingshuk, Vilain, Eric, Nelson, Stanley F., Grody, Wayne W., Deignan, Joshua L.
Publicado 2014

Coupling clinical exome sequencing with functional characterization studies to diagnose a patient with familial Mediterranean fever and MED13L haploinsufficiency syndromes

por Mullegama, Sureni V., Jensik, Phillip, Li, Chen, Dorrani, Naghmeh, Kantarci, Sibel, Blumberg, Bruce, Grody, Wayne W., Strom, Samuel P.
Publicado 2017

Systemic mastocytosis associated with t(8;21)(q22;q22) acute myeloid leukemia

por Pullarkat, Sheeja T., Pullarkat, Vinod, Kroft, Steven H., Wilson, Carla S., Ahsanuddin, Arshad N., Mann, Karen P., Thein, Maung, Grody, Wayne W., Brynes, Russell K.
Publicado 2009

Standards and Guidelines for the Interpretation of Sequence Variants: A Joint Consensus Recommendation of the American College of Medical Genetics and Genomics and the Association...

por Richards, Sue, Aziz, Nazneen, Bale, Sherri, Bick, David, Das, Soma, Gastier-Foster, Julie, Grody, Wayne W., Hegde, Madhuri, Lyon, Elaine, Spector, Elaine, Voelkerding, Karl, Rehm, Heidi L.
Publicado 2015

Personalized Medicine in Ophthalmology: From Pharmacogenetic Biomarkers to Therapeutic and Dosage Optimization

por Ong, Frank S., Kuo, Jane Z., Wu, Wei-Chi, Cheng, Ching-Yu, Blackwell, Wendell-Lamar B., Taylor, Brian L., Grody, Wayne W., Rotter, Jerome I., Lai, Chi-Chun, Wong, Tien Y.
Publicado 2013

De Novo variants in the KMT2A (MLL) gene causing atypical Wiedemann-Steiner syndrome in two unrelated individuals identified by clinical exome sequencing

por Strom, Samuel P, Lozano, Reymundo, Lee, Hane, Dorrani, Naghmeh, Mann, John, O’Lague, Patricia F, Mans, Nicole, Deignan, Joshua L, Vilain, Eric, Nelson, Stanley F, Grody, Wayne W, Quintero-Rivera, Fabiola
Publicado 2014

AAV-based Gene Therapy Prevents Neuropathology and Results in Normal Cognitive Development in the Hyperargininemic Mouse

por Lee, Eun K., Hu, Chuhong, Bhargava, Ragini, Ponnusamy, Ravi, Park, Hana, Novicoff, Sarah, Rozengurt, Nora, Marescau, Bart, De Deyn, Pater, Stout, David, Schlichting, Lisa, Grody, Wayne W., Cederbaum, Stephen D., Lipshutz, Gerald S.
Publicado 2013

DNA sequencing of maternal plasma reliably identifies trisomy 18 and trisomy 13 as well as Down syndrome: an international collaborative study

por Palomaki, Glenn E., Deciu, Cosmin, Kloza, Edward M., Lambert-Messerlian, Geralyn M., Haddow, James E., Neveux, Louis M., Ehrich, Mathias, van den Boom, Dirk, Bombard, Allan T., Grody, Wayne W., Nelson, Stanley F., Canick, Jacob A.
Publicado 2012

Missense-depleted regions in population exomes implicate ras superfamily nucleotide-binding protein alteration in patients with brain malformation

por Ge, Xiaoyan, Gong, Henry, Dumas, Kevin, Litwin, Jessica, Phillips, Joanna J, Waisfisz, Quinten, Weiss, Marjan M, Hendriks, Yvonne, Stuurman, Kyra E, Nelson, Stanley F, Grody, Wayne W, Lee, Hane, Kwok, Pui-Yan, Shieh, Joseph T C
Publicado 2016

Cystic fibrosis population carrier screening: 2004 revision of American College of Medical Genetics mutation panel

por Watson, Michael S., Cutting, Garry R., Desnick, Robert J., Driscoll, Deborah A., Klinger, Katherine, Mennuti, Michael, Palomaki, Glenn E., Popovich, Bradley W., Pratt, Victoria M., Rohlfs, Elizabeth M., Strom, Charles M., Richards, C. Sue, Witt, David R., Grody, Wayne W.
Publicado 2004

The Case for Laboratory Developed Procedures: Quality and Positive Impact on Patient Care

por Kaul, Karen L., Sabatini, Linda M., Tsongalis, Gregory J., Caliendo, Angela M., Olsen, Randall J., Ashwood, Edward R., Bale, Sherri, Benirschke, Robert, Carlow, Dean, Funke, Birgit H., Grody, Wayne W., Hayden, Randall T., Hegde, Madhuri, Lyon, Elaine, Murata, Kazunori, Pessin, Melissa, Press, Richard D., Thomson, Richard B.
Publicado 2017